GMS 6224 Foundations of Precision Medicine: Medical Molecular Genetics


This 5-week, 1-credit online graduate-level survey course will cover a range of topics in human genetics, focusing on mutation/variant pathogenic mechanisms and applications in the context of human disease. This course will review concepts and provide a foundation for understanding mechanisms of human molecular pathogenesis at the gene and chromosome level, and understanding the application of genetic knowledge in modern healthcare using real-world examples.

  • Credit(s): 1
  • Course Format: Asynchronous
  • Required: Yes
  • Prerequisites: Students must have basic knowledge and understanding of genetics and molecular biology, including nomenclature.
    • (PHA 6134) Foundations of Precision Medicine: Genomic Technologies

Course Objectives

Develop a greater understanding of the function and role of the human genome in disease, specifically:

  • The human karyotype, modes of Mendelian inheritance, and factors affecting interpretation thereof.
  • Mechanisms by which genetic variations contribute to human phenotypes and applications in the clinic. 
  • Molecular pathogenetic mechanisms of, and techniques to identify, high-penetrance mutations.
  • Pathogenesis at the RNA level.
  • Genetic association of multifactorial traits, and functional effects of alleles.
  • Epigenetics in hereditary disease and genetic susceptibility.
  • Cancer genetics concepts: somatic mutations and mechanisms.